Incidental Mutation 'R3931:Hsd3b3'
| ID |
308461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd3b3
|
| Ensembl Gene |
ENSMUSG00000062410 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3 |
| Synonyms |
9030618K22Rik |
| MMRRC Submission |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98648839-98670443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98649492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 277
(G277D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090743]
[ENSMUST00000094050]
[ENSMUST00000107018]
[ENSMUST00000107019]
[ENSMUST00000146196]
|
| AlphaFold |
P26150 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090743
AA Change: G277D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410
AA Change: G277D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
5 |
132 |
8.2e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
3.9e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
134 |
3.5e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
2.5e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
237 |
5.8e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
256 |
1.4e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
1.6e-114 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
220 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094050
AA Change: G222D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410
AA Change: G222D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:3Beta_HSD
|
7 |
51 |
2e-12 |
PFAM |
|
Pfam:NAD_binding_4
|
39 |
162 |
7.4e-7 |
PFAM |
|
Pfam:Epimerase
|
43 |
201 |
2.1e-12 |
PFAM |
|
Pfam:3Beta_HSD
|
48 |
233 |
4.1e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107018
AA Change: G222D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410
AA Change: G222D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
5 |
132 |
8.2e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
3.9e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
134 |
3.5e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
2.5e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
237 |
5.8e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
256 |
1.4e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
1.6e-114 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
220 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107019
AA Change: G277D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410
AA Change: G277D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Polysacc_synt_2
|
6 |
135 |
1.9e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
137 |
5.6e-8 |
PFAM |
|
Pfam:Epimerase
|
6 |
250 |
2e-26 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
7 |
213 |
1.9e-13 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
4.3e-116 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
207 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146196
|
| SMART Domains |
Protein: ENSMUSP00000121360
Gene: ENSMUSG00000062410
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
4 |
174 |
1.9e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
5.6e-9 |
PFAM |
|
Pfam:KR
|
5 |
133 |
9.5e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
135 |
2.8e-14 |
PFAM |
|
Pfam:NmrA
|
6 |
137 |
1.8e-9 |
PFAM |
|
Pfam:Epimerase
|
6 |
187 |
2.2e-23 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
187 |
1.4e-10 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
187 |
9.3e-76 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
176 |
6.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196741
|
| Meta Mutation Damage Score |
0.8345 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hsd3b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01551:Hsd3b3
|
APN |
3 |
98,649,216 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01776:Hsd3b3
|
APN |
3 |
98,651,163 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02189:Hsd3b3
|
APN |
3 |
98,649,454 (GRCm39) |
missense |
probably benign |
|
|
R0689:Hsd3b3
|
UTSW |
3 |
98,649,295 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0893:Hsd3b3
|
UTSW |
3 |
98,649,757 (GRCm39) |
splice site |
probably null |
|
|
R1759:Hsd3b3
|
UTSW |
3 |
98,649,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2008:Hsd3b3
|
UTSW |
3 |
98,649,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Hsd3b3
|
UTSW |
3 |
98,649,396 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4664:Hsd3b3
|
UTSW |
3 |
98,649,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Hsd3b3
|
UTSW |
3 |
98,649,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Hsd3b3
|
UTSW |
3 |
98,649,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Hsd3b3
|
UTSW |
3 |
98,649,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Hsd3b3
|
UTSW |
3 |
98,649,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5622:Hsd3b3
|
UTSW |
3 |
98,649,524 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6280:Hsd3b3
|
UTSW |
3 |
98,660,621 (GRCm39) |
splice site |
probably null |
|
|
R6348:Hsd3b3
|
UTSW |
3 |
98,663,265 (GRCm39) |
splice site |
probably null |
|
|
R7070:Hsd3b3
|
UTSW |
3 |
98,649,787 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7283:Hsd3b3
|
UTSW |
3 |
98,649,673 (GRCm39) |
nonsense |
probably null |
|
|
R7747:Hsd3b3
|
UTSW |
3 |
98,651,214 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8054:Hsd3b3
|
UTSW |
3 |
98,649,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Hsd3b3
|
UTSW |
3 |
98,651,205 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9130:Hsd3b3
|
UTSW |
3 |
98,651,211 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9164:Hsd3b3
|
UTSW |
3 |
98,660,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9333:Hsd3b3
|
UTSW |
3 |
98,649,216 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Hsd3b3
|
UTSW |
3 |
98,651,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGTCCCGATCCACTCTG -3'
(R):5'- ACAGCCAACCCAGTATATGTGG -3'
Sequencing Primer
(F):5'- CCAGCTGACAAGTGGCTCATAG -3'
(R):5'- CCAGTATATGTGGGCAATGTGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation